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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.84290214G>T , CM000671.2:g.84290214G>T
GRCh38
NC_000009.11:g.86905129G>T , CM000671.1:g.86905129G>T
GRCh37
NC_000009.10:g.86094949G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000376238.5:c.1089C>A
MANE Select
ENSP00000365413.4:p.Ile363=
ENST00000376238.4:c.1089C>A
ENSP00000365413.4:p.Ile363=
NM_001199633.1:c.1089C>A
NP_001186562.1:p.Ile363=
NM_022127.2:c.1089C>A
NP_071410.1:p.Ile363=
NR_037638.2:n.1411C>A
XM_011518905.1:c.1173C>A
XP_011517207.1:p.Ile391=
XM_011518906.1:c.1173C>A
XP_011517208.1:p.Ile391=
XM_011518907.1:c.840C>A
XP_011517209.1:p.Ile280=
XM_011518908.1:c.450C>A
XP_011517210.1:p.Ile150=
XM_011518909.1:c.*182C>A
XP_011517211.1:n.*182C>A
XM_011518910.1:c.*106C>A
XP_011517212.1:n.*106C>A
XR_929832.1:n.1300C>A
XM_011518905.2:c.1173C>A
XP_011517207.1:p.Ile391=
XM_011518906.2:c.1173C>A
XP_011517208.1:p.Ile391=
XM_011518907.2:c.840C>A
XP_011517209.1:p.Ile280=
XM_011518908.2:c.450C>A
XP_011517210.1:p.Ile150=
XM_011518909.2:c.*182C>A
XP_011517211.1:n.*182C>A
XM_011518910.2:c.*106C>A
XP_011517212.1:n.*106C>A
XR_929832.2:n.1305C>A
NM_001199633.2:c.1089C>A
MANE Select
NP_001186562.1:p.Ile363=
NM_022127.3:c.1089C>A
NP_071410.1:p.Ile363=
NR_037638.3:n.1390C>A